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Dentistry Section
DOI: 10.7860/JCDR/2013/4933.2988
Case Report
The Crouzan Syndrome-A Case Report
Manu Prasad, Ashwini S. Shetty, Manjula Shantaram
ABSTRACT
The Crouzon syndrome is a genetic disorder which is known as
the brachial arch syndrome. It is an autosomal dominant disorder
which is one of a rare group of syndromes which is characterized
by cranio synostosis or a premature closing of the cranial sutures.
The major features are brachiocephaly, occular proptosis, an under
developed maxilla, mid face hypoplasia, a rare cleft lip or palate,
hypodontia (some teeth missing) and crowding of teeth. Due to
the maxillary hypoplasia, the Crouzon syndrome patients generally
have a considerable permanent underbite and they subsequently
cannot chew by using their incisors. We have presented in this article, a case of the Crouzon syndrome which was seen in a girl who
was aged six years, with similar symptoms and the multidisciplinary
approach which has to be followed in managing the case.
Key Words: Craniofacial syndromes, Crouzon syndrome, Premature synostosis
Introduction
The Crouzon syndrome is named after the French neurologist, Octave Crouzon, who described this disorder [1-3] which includes
a triad of skull deformities, facial anomalies, and an exopthalmus
[4, 5]. Many bones which form the skull are separated by sutures
which allow the skull to expand and develop in synchrony with
the growth of the brain. Premature synostosis commonly involves
the sagittal and the coronal sutures. Occasionally, the lambdoid
sutures are involved. The order or rate of the suture fusion determines the degrees of deformity and disability [1, 2]. A premature
sutural fusion may occur alone or together with other anomalies,
thus causing various syndromes [6]. The craniofacial abnormalities are often present at birth and they may progress with time. A
decreased mental function is present in approximately 12% of the
patients. The family history may reveal individuals with a mild Crouzon syndrome. The headaches and a failing vision are attributable
to an elevated intracranial pressure.
In this article, we are presenting a case of the Crouzon syndrome
which is one of the rare syndromes and is associated with synostosis of the cranial sutures, which is seen in 1 in 60,000 persons.
The differential diagnosis of the Crouzon syndrome includes simple
synostosis as well as the Apert, Pfeiffer and the Saethre- chotzen
syndromes.
ophthalmic features were, an extremely shallow orbit, an apparent proptosis, an inferior sclera which was caused by the maxillary
hypoplasia, upper lid ptosis, nystagmus central (rotatory) exotropia
and left eye myopia. The intercanthal distance was 28mm. There
was a history of a spontaneous prolapse of the right eye ball, 2 to
3 years ago, due to rubbing of the eye. There was no recurrence.
No digital abnormalities were present.
[Table/Fig-1]: Picture showing exophthalmus
Case report
A six years old female child who was born by a full term normal
delivery, with a normal appearance, developed an impaired vision
with an excessive prominence of the eyeballs, an abnormal shape
of the skull which was characterized by a premature fusion of the
coronal sagittal and the bilateral parieto-occipital sutures, a maxillary complex (craniosynostosis), an exophthalmos, [Table/Fig-1] a
beaked nose [Table/Fig-1], a short upper lip [Table/Fig-1], a hypoplastic maxilla, and a relative mandibular prognathism [Table/
Fig-2], crowding of the teeth, frontal bossing, a depressed nasal
bridge, a broad nasal bone, low set ears, [Table/Fig-2] a high arched
palate, a long philtrum and webbing of the neck [Table/Fig-3]. The
Journal of Clinical and Diagnostic Research. 2013 May, Vol-7(5): 959-961
[Table/Fig-2]: Picture showing mandibular prognathism, frontal
bossing, low set ears
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Manu Prasad et al., The Crouzan Syndrome - A Case Report
www.jcdr.net
Discussion
[Table/Fig-3]: Picture showing beaked nose, high arched palate, short
upper lip, hypoplastic maxilla, long philtrum, webbing of the neck
[Table/Fig-4]: Picture showing crowding of teeth, depressed nasal
bridge and broad nasal bone
The lack of sutural growth of the maxilla and the abnormal remodeling pattern led to a maxilla that was not only small in all the three
dimensions but also, its internal architecture was deranged. The
distance from the orbital floor to the nasal floor was extremely short
and the distance from the nasal floor to the occlusal plane was
increased. In the sagittal plane, the distance from the anterior nasal
spine to the nasal spine was foreshortened.
The mandible revealed a relatively normal growth pattern, whereby
the patient grew into a class 3 relationship with the mandibular
overjet, that is relative to a mandibular prognathism.
An informed consent was obtained for publication.
Investigations
Blood: The peripheral blood smear showed a normocytic, hypochromic picture with mild leucopaenia
CVS and RS: Normal
X-ray report: Radiology of the skull revealed obliteration of the
sagittal and the coronal sutures lines with an obvious bony continuity, mild ocular hypertelorism and crowding of the teeth.
Features of the CT scan:
A premature fusion of the multiple sutures was suggestive of craniosynostosis (fusion of the coronal sagittal and the bilateral parietooccipital sutures) and a mild hydrocephalus.
Treatment
A syndrome which is caused by the complexity of the symptoms
always demands a multidisciplinary approach for a successful outcome. The aim of the treatment in this case, was to relieve the
intracranial pressure, which can be done by creating a drainage of
the CSF. This patient underwent a ventriculo peritoneal (VP) shunt
for the mild hydrocephalus.
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The phenotypic features of the Crouzon syndrome may be absent
at birth and they may evolve gradually during the first few years of
life [7, 8] as seen in the figures [Table/Fig-1-4]. It is commonly inherited as an autosomal dominant trait, with complete penetrance and
a variable expressivity, but about one third of the cases do arise
spontaneously. The male to female preponderance is 3:1 [2, 9].
With the advent of molecular technologies, the gene for the Crouzon syndrome could be localized to the Fibroblast Growth Factor
Receptor 2nd gene (FGFR2), at the chromosomal locus 10q25.3q26, and more than 30 different mutations within the gene have
been documented in separate families [10]. The cranial synostosis
initiates changes in the brain and the adjoining structures such as
an increased intracranial pressure, a reduced orbital volume, occlusal derangements and exophthalmoses [11]. A prenatal diagnosis of the exophthalmus has been reported by5 ultra sonography.
So, an early recognition is essential, to guide the growth and development of the face and the cranium [7]. In 30% of the cases, the
hydrocephalus is in progress, as per the literature. There was a mild
dilatation of the ventricles in our patient too, which was suggestive
of a hydrocephalus, which is one of the rare signs. A multidisciplinary approach was required to manage this case with treatment
measures, to minimize the intracranial pressure and the secondary
calvarias deformities. The innovations in craniofacial surgery enabled the patient to achieve their full potential, by maximizing their
opportunities for an intellectual growth, a physical competence and
a social acceptance. So, the prognosis depends on the severity of
the malformations. The patients usually lead normal lives.
The Crouzon syndrome requires major surgery and there can be
major complications such as death or blindness, but in the hands
of an experienced craniofacial team, this is rare. Other complications such as a collection of blood, an infection, bony irregularities,
an electrolyte imbalance and a haemodynamical instability can occur.
It should be remembered that these conditions are problems in
the growth and that subsequent “re-corrective surgeries” may be
required.
References
[1] Cohen MM Jr Craniosynostosis syndromes with craniosynostosis:
Incidence, genetics penetrance, variability, and new updating. Birth
Defects Orig Artic Ser. 1979;15: 13-63.
[2] Cohen MM Jr. Craniosynostosis: Diagnosis, evaluation and management. Raven Press: New York; 1986.
[3] Ahmed I, Afzal A. Diagnosis and evaluation of Crouzon syndrome. J
Coll Physicians Surg Pak. 2009;19(5): 318-20.
[4] Bowling EL, Burstein FD. Crouzon syndrome. Optometry. 2006; 77:
217-22.
[5] Horbelt CV. Physical and oral characteristics of Crouzon syndrome,
Apert syndrome, and Pierrerobin sequence. Gen Dent. 2008;
56(2):132-34.
[6] Cohen MM Jr. Craniosynostosis update 1987. Am J Med Genet Suppl. 1988; 4: 99-148.
[7] Atkinson FR. Hereditary craniofacial dysostosis or Crouzon’s syndrome disease. Med Press Circular. 1937;195: 118-24.
[8] Golabi M. Radiographic abnormalities of Crouzan syndrome. A survey
of 23 cases. Proc Greenwood Genet Ctr. 1984;3:102.
[9] Gorlin RJ, Cohen MM, Levin LS. Syndromes of the head and neck.
IN:,editors. 3rd ed. Oxford University Press: 1990; 516-26.
[10] Jeftha A, StephenL, Morkel IA, Beighton P. Crouzono dermoskel etal
syndrome. J Clin Pediatr Dent. 2004;28:173- 76.
[11] Regezi JA, Sciubba JJ. Oral pathology-Clinical pathologic correlation.
3rd ed. WB Saunders Company: 1999; 436-37.
Journal of Clinical and Diagnostic Research. 2013 May, Vol-7(5): 959-961
www.jcdr.net
AUTHOR(S):
1. Dr. Manu Prasad
2. Dr. Ashwini S. Shetty
3. Dr. Manjula Shantaram
PARTICULARS OF CONTRIBUTORS:
1. Consultant Surgeon, Department of Craniofacial Surgery,
Yenepoya University Hospital, Yenepoya University,
Mangalore 575 018, Karnataka, India.
2. Lecturer, Department of Anatomy,
Yenepoya Medical College, Yenepoya University,
Mangalore-575 018, Karnataka, India.
3. Associate Professor, Department of Biochemistry,
Yenepoya Medical College, Yenepoya University,
Mangalore 575 018, Karnataka, India.
Journal of Clinical and Diagnostic Research. 2013 May, Vol-7(5): 959-961
Manu Prasad et al., The Crouzan Syndrome - A Case Report
NAME, ADDRESS, E-MAIL ID OF THE CORRESPONDING
AUTHOR:
Dr. Manu Prasad,
Department of Craniofacial Surgery
Yenepoya University Hospital, Yenepoya University, Mangalore
575 018, Karnataka, India.
E-mail: [email protected]
Financial OR OTHER COMPETING INTERESTS:
None.
Date of Submission: Aug 08, 2012
Date of Peer Review: Oct 21, 2012
Date of Acceptance: Feb 14, 2013
Date of Publishing: May 01, 2013
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